A simple, straightforward assay for long-chain 3-hydroxyacyl-CoA dehydrogenase based on the use of N-ethylmaleimide : potential for pre- and postnatal diagnosisIJLST, L; WANDERS, R. J. A.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 568-570, issn 0141-8955Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts : potential for pre- and postnatal diagnosisWANDERS, R. J. A; IJLST, L.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 356-358, issn 0141-8955Conference Paper

A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblastsIJLST, L; WANDERS, R. J. A.Annals of clinical biochemistry. 1993, Vol 30, pp 293-297, issn 0004-5632, 3Article

Fatty acid β-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patientsWANDERS, R. J. A; IJLST, L.Biochimica et biophysica acta. Molecular basis of disease. 1992, Vol 1138, Num 1, pp 80-84Article

Quantitative acylcarnitine profiling in fibroblasts using [U-¹³C] palmitic acid : an improved tool for the diagnosis of fatty acid oxidation defectsVENTURA, F. V; COSTA, C. G; STRUYS, E. A et al.Clinica chimica acta. 1999, Vol 281, Num 1-2, pp 1-17, issn 0009-8981Article

Valproate inhibits the mitochondrial pyruvate-driven oxidative phosphorylation in vitroSILVA, M. F. B; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 397-400, issn 0141-8955Conference Paper

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid β-oxidation intermediates on mitochondrial oxidative phosphorylationVENTURA, F. V; RUITER, J. P. N; IJLST, L et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 161-164, issn 0141-8955Article

Octanoate and palmitate β-oxidation in human leukocytes : implications for the rapid diagnosis of fatty acid β-oxidation disordersWANDERS, R. J. A; IJLST, L; VAN ELK, E et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 317-320, issn 0141-8955Article

β-oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduriaVENIZELOS, N; IJLST, L; WANDERS, R. J. A et al.Pediatric research. 1994, Vol 36, Num 1, pp 111-114, issn 0031-3998, 1Article

Clinical variability of isovaleric acidemia in a genetically homogeneous populationDERCKSEN, M; DURAN, M; IJLST, L et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 6, pp 1021-1029, issn 0141-8955, 9 p.Article

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneJANSEN, G. A; OFMAN, R; WANDERS, R. J. A et al.Nature genetics. 1997, Vol 17, Num 2, pp 190-193, issn 1061-4036Article

A new, simple assay for long-chain acyl-CoA dehydrogenase in cultured skin fibroblasts using stable isotopes and GC-MSNIEZEN-KONING, K. E; WANDERS, R. J. A; NAGEL, G. T et al.Biochimica et biophysica acta. Molecular basis of disease. 1992, Vol 1180, Num 1, pp 28-32, issn 0925-4439Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : different clinical expression in three unrelated patientsWANDERS, R. J. A; IJLST, L; DURAN, M et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 325-328, issn 0141-8955Article

Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblastsHUNT, M. C; RUITER, J; MOOYER, P et al.European journal of clinical investigation. 2005, Vol 35, Num 1, pp 38-46, issn 0014-2972, 9 p.Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : A new method to identify the G1528C mutation in gneomic DNA showing its high frequency (90%) and identification of a new mutation (T2198C)IJLST, L; RUITER, J. P. N; VREIJLING, J et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 2, pp 165-168, issn 0141-8955Article

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiencyNIEZEN-KONING, K. E; VAN SPRONSEN, F. J; IJLST, L et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 230-232, issn 0141-8955Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency : identification of a new inborn error of mitochondrial fatty acid β-oxidationWANDERS, R. J. A; IJLST, L; VAN GENNIP, A. H et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 3, pp 311-314, issn 0141-8955, 4 p.Article

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycleRÖSCHINGER, W; MUNTAU, A. C; DURAN, M et al.Clinica chimica acta. 2000, Vol 298, Num 1-2, pp 55-68, issn 0009-8981Article

Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is lowDEN BOER, M. E. J; IJLST, L; WIJBURG, F. A et al.Pediatric research. 2000, Vol 48, Num 2, pp 151-154, issn 0031-3998Article

Spontaneous pregnancy in a patient with classical galactosaemiaDE JONGH, S; VREKEN, P; IJLST, L et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 6, pp 754-755, issn 0141-8955Article

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidationTANG, N. L. S; HUI, J; HJELM, N. M et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 4, pp 423-425, issn 0141-8955Article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyPRZYREMBEL, H; JAKOBS, C; IJLST, L et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 5, pp 674-680, issn 0141-8955Article

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo diseaseDE RUIJTER, J; IJLST, L; KULIK, W et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 2, pp 271-279, issn 0141-8955, 9 p.Article

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiencyANDRESEN, B. S; OLPIN, S; BAUMGARTNER, E. R et al.American journal of human genetics. 1999, Vol 64, Num 2, pp 479-494, issn 0002-9297Article

Molecular basis of Sjögren-Larsson syndrome : Frequency of the 1297-1298 del GA and 943C → T mutation in 29 patientsIJLST, L; OOSTHEIM, W; VAN WERKHOVEN, M et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 3, pp 319-321, issn 0141-8955Article